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AHI1 is apparently required for both cerebellar and cortical development in humans. Additionally we are shipping AHI1 Kits (3) and AHI1 Proteins (3) and many more products for this protein.
Showing 10 out of 54 products:
Human Polyclonal AHI1 Primary Antibody for ELISA, WB - ABIN250311
Jiang, Hanna, Kaouass, Girard, Jolicoeur: Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations. in Journal of virology 2002
Show all 4 Pubmed References
Human Polyclonal AHI1 Primary Antibody for ELISA, WB - ABIN185303
Dixon-Salazar, Silhavy, Marsh, Louie, Scott, Gururaj, Al-Gazali, Al-Tawari, Kayserili, Sztriha, Gleeson: Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. in American journal of human genetics 2004
Show all 5 Pubmed References
We cloned the full cDNA sequence of Ahi-1 homologous in zebrafish.RT-PCR reveal that ZAhi-1 expressed highest in the mature gonad. In situ hybridization results of zebrafish gonad show that ZAhi-1 only expressed in the early stages' gamete cells.[ZAhi-1]
a role for Ahi1 in epithelial cell organization and ciliary formation and explain the ciliopathy phenotype of AHI1 mutations in man.
Results describe spatiotemporal expression patterns of AHI1 and orthologs throughout development, in human, mouse, and zebrafish, and suggest roles for AHI1 in neurodevelopmental processes behind most of the neuroanatomical defects in Joubert syndrome.
introduction of equivalent stop codons in the full-length human L1 sequence leads to the expression of truncated ORF1 proteins.
Aicardi-Goutieres syndrome protein TREX1 (show TREX1 Antibodies) suppresses L1 and maintains genome integrity through exonuclease (show EXO1 Antibodies)-independent ORF1p depletion.
We observed that a cis (show CISH Antibodies)-eQTL (show EQTN Antibodies) of AHI1, rs11154801, showed significant association with AHI1 expression. Genetic evidence exhibited that rs11154801 was significantly associated with schizophrenia risk in both the discovery and the replication sample. These results suggested that AHI1 is likely a risk gene for schizophrenia, at least in European populations.
We examined a Chinese strabismus (show VANGL2 Antibodies) pedigree with the parents unaffected and 2 offspring affected. Whole-exome sequencing and bioinformatics filtering identified 2 variants including Abelson helper integration site 1 (AHI1) gene and nebulin (NEB (show NEB Antibodies)) gene. The variant in the AHI1 gene, c.A3257G (p.E1086G), and the altered amino acid had a damaging effect on the encoded protein predicted by Polyphen2.
Homozygosity mapping and WES in the only other reported JBTS family with a homozygous C-terminal truncation (p.Trp1088Leufs*16) confirmed AHI1 as disease gene.
Two SNPs of AHI1 (rs7750586 and rs9647635) were associated with clinical improvement of negative symptoms in the allelic analysis, although in the genotypic analysis, only trends of association were found for the same SNPs.
Joubert syndrome-associated missense mutations alter the subcellular distribution and protein interactions of AHI1.
The WD40-repeat domain of AHI-1 interacts with BCR-ABL, whereas the N-terminal region interacts with JAK2; loss of these interactions statistically significantly increased the IM sensitivity of CML cells.
Downregulation of CDKN1C (show CDKN1C Antibodies) is associated with poor disease outcome in patients with cutaneous T-cell lymphoma, while upregulation of AHI1 shows a weak association with aggressive disease course.
a role for AHI1 and CEP290 (show CEP290 Antibodies) in multiple organs throughout development
The current research describes multi-faceted effort to link early variations in Ahi1 expression with long-term consequences for functional brain networks and cognitive-emotional phenotypes.
Our findings suggest that Ahi1 KO mice can be used for studying the mechanisms of depression and screening therapeutic targets.
Jouberin is expressed in mESCs and localized at the primary cilium. Jouberin controls mouse embryonic stem cells early neural differentiation.
Results suggest that under-expression of the Ahi1 gene during neurodevelopment brings about relative resilience to various stressors during adulthood
The results of this study suggest that Cend1 (show CEND1 Antibodies) is involved in Ahi1 mutation-induced neuropathology.
Hypothalamic Ahi1 functions as a sensor of insulin (show INS Antibodies) signaling.
Results indicate that the Hap1 (show HAP1 Antibodies)-Ahi1 complex in the brainstem works as a sensor for insulin (show INS Antibodies) signals in feeding control.
Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB (show NTRK2 Antibodies) signaling with a depressive phenotype.
The retinal degeneration observed in Ahi1(-/-) mice recapitulates aspects of the retinal phenotype observed in patients with Joubert syndrome and suggests the importance of Ahi1 in photoreceptor function.
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.
Abelson helper integration site 1
, abelson helper integration site 1 protein homolog
, contatins SH3 and WD40 domains
, abelson helper integration site 1 protein